Mutagenetix > Incidental Mutation

Incidental Mutation 'R8321:Gfm1'

641941

Institutional Source

Beutler Lab

Gene Symbol

Gfm1

Ensembl Gene

ENSMUSG00000027774

Gene Name

G elongation factor, mitochondrial 1

Synonyms

D3Wsu133e

MMRRC Submission

067723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67337448-67382401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67337594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 8 (A8V)

Ref Sequence

ENSEMBL: ENSMUSP00000076503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077271]

AlphaFold

Q8K0D5

Predicted Effect

probably benign
Transcript: ENSMUST00000077271
AA Change: A8V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: A8V

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	45	320	3.5e-65	PFAM
Pfam:GTP_EFTU_D2	366	432	6e-18	PFAM
Pfam:EFG_II	446	520	1.9e-31	PFAM
EFG_IV	522	642	1.64e-47	SMART
EFG_C	644	731	2.16e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap44	A	G	11: 64,899,053 (GRCm39)	V708A	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Bank1	T	A	3: 135,940,395 (GRCm39)	E329V	possibly damaging	Het
Ccdc162	C	A	10: 41,510,029 (GRCm39)	A859S	probably damaging	Het
Cdh11	T	C	8: 103,361,416 (GRCm39)	R641G	probably damaging	Het
Cfap58	A	G	19: 47,946,586 (GRCm39)	E373G	probably damaging	Het
Chd8	T	C	14: 52,470,024 (GRCm39)	T529A	probably benign	Het
Chtf18	G	A	17: 25,939,865 (GRCm39)	T747I	probably benign	Het
Cyp2j6	A	G	4: 96,441,684 (GRCm39)	L2P	probably benign	Het
Cyp4f18	G	A	8: 72,742,427 (GRCm39)	P518S	possibly damaging	Het
Dmrtc1a	G	A	X: 101,952,221 (GRCm39)	R8W	probably benign	Het
Dpyd	T	C	3: 118,575,573 (GRCm39)	V137A	possibly damaging	Het
Epha6	A	G	16: 59,736,317 (GRCm39)	V739A	probably damaging	Het
Ern2	C	T	7: 121,772,431 (GRCm39)	A676T	probably damaging	Het
Fam20c	A	T	5: 138,743,686 (GRCm39)	I241F	possibly damaging	Het
Fastkd2	A	G	1: 63,787,138 (GRCm39)	H524R	probably benign	Het
Foxq1	T	C	13: 31,743,251 (GRCm39)	Y118H	probably damaging	Het
Gfm2	C	T	13: 97,299,500 (GRCm39)	T407M	possibly damaging	Het
Gldc	G	A	19: 30,120,807 (GRCm39)	Q375*	probably null	Het
Gm5114	A	G	7: 39,060,273 (GRCm39)	I192T	possibly damaging	Het
Gnb1	A	T	4: 155,639,482 (GRCm39)	N237I	possibly damaging	Het
Herc2	C	T	7: 55,879,096 (GRCm39)	P4662S	possibly damaging	Het
Herc3	C	T	6: 58,820,754 (GRCm39)	S46F	possibly damaging	Het
Hgsnat	C	T	8: 26,461,179 (GRCm39)	G153E	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv2-137	GA	GAA	6: 67,533,154 (GRCm39)		probably null	Het
Invs	T	A	4: 48,283,267 (GRCm39)	D6E	probably benign	Het
Jakmip3	T	C	7: 138,628,613 (GRCm39)	V463A	probably benign	Het
Jarid2	T	A	13: 45,001,862 (GRCm39)	S96R	probably damaging	Het
Krtap6-1	A	C	16: 88,828,624 (GRCm39)	N7H	unknown	Het
Matn4	A	T	2: 164,235,207 (GRCm39)	V455D	probably damaging	Het
Nbea	G	A	3: 56,090,518 (GRCm39)	P47S	possibly damaging	Het
Oit3	T	C	10: 59,263,982 (GRCm39)	H384R	probably benign	Het
Or1e27-ps1	G	A	11: 73,556,362 (GRCm39)	R309H	unknown	Het
Or8b42	A	T	9: 38,341,850 (GRCm39)	I91F	probably damaging	Het
Pabpc4l	T	A	3: 46,400,729 (GRCm39)	D305V	probably damaging	Het
Papln	G	A	12: 83,821,715 (GRCm39)	W314*	probably null	Het
Pask	G	A	1: 93,248,377 (GRCm39)	R975C	possibly damaging	Het
Pate13	G	T	9: 35,820,749 (GRCm39)	C111F	probably damaging	Het
Plce1	A	G	19: 38,640,380 (GRCm39)	N542S	probably benign	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sez6l2	C	A	7: 126,557,588 (GRCm39)	T334N	probably damaging	Het
Sh3d19	A	G	3: 86,001,071 (GRCm39)	T256A	probably damaging	Het
Slit2	A	T	5: 48,387,609 (GRCm39)	N545Y	probably damaging	Het
Sprtn	A	T	8: 125,629,994 (GRCm39)	D429V	possibly damaging	Het
Srcap	T	C	7: 127,140,068 (GRCm39)	V1389A	probably damaging	Het
Tecta	C	A	9: 42,284,349 (GRCm39)	C912F	probably damaging	Het
Tns1	T	A	1: 74,024,939 (GRCm39)		probably null	Het
Tprg1l	A	G	4: 154,244,860 (GRCm39)	V76A	probably benign	Het
Trav12-2	G	T	14: 53,853,840 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,881,412 (GRCm39)	D612G	possibly damaging	Het
Usp6nl	A	T	2: 6,395,900 (GRCm39)	Q36H	possibly damaging	Het
Vps9d1	A	T	8: 123,975,544 (GRCm39)	M167K	possibly damaging	Het
Zfhx4	T	A	3: 5,466,187 (GRCm39)	L2140Q	probably damaging	Het
Zfp512b	A	G	2: 181,228,931 (GRCm39)	V678A	possibly damaging	Het
Zfp800	A	G	6: 28,242,992 (GRCm39)	S658P	probably damaging	Het
Zscan22	A	G	7: 12,637,625 (GRCm39)	S6G	probably benign	Het

Other mutations in Gfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Gfm1	APN	3	67,345,893 (GRCm39)	missense	possibly damaging	0.79
IGL01377:Gfm1	APN	3	67,382,086 (GRCm39)	missense	probably damaging	1.00
IGL01397:Gfm1	APN	3	67,350,991 (GRCm39)	missense	probably benign	0.09
IGL01738:Gfm1	APN	3	67,363,994 (GRCm39)	missense	probably benign	0.15
IGL02679:Gfm1	APN	3	67,382,100 (GRCm39)	missense	possibly damaging	0.56
IGL03271:Gfm1	APN	3	67,382,076 (GRCm39)	missense	probably damaging	1.00
R0389:Gfm1	UTSW	3	67,365,251 (GRCm39)	missense	probably benign	0.00
R0815:Gfm1	UTSW	3	67,381,928 (GRCm39)	missense	probably damaging	1.00
R0863:Gfm1	UTSW	3	67,381,928 (GRCm39)	missense	probably damaging	1.00
R1626:Gfm1	UTSW	3	67,345,977 (GRCm39)	missense	probably damaging	1.00
R1843:Gfm1	UTSW	3	67,342,943 (GRCm39)	missense	probably damaging	1.00
R1931:Gfm1	UTSW	3	67,363,918 (GRCm39)	missense	probably benign	0.44
R2097:Gfm1	UTSW	3	67,357,079 (GRCm39)	missense	probably damaging	0.97
R2149:Gfm1	UTSW	3	67,381,893 (GRCm39)	missense	probably damaging	1.00
R2337:Gfm1	UTSW	3	67,342,847 (GRCm39)	missense	probably damaging	1.00
R3739:Gfm1	UTSW	3	67,364,033 (GRCm39)	missense	probably damaging	1.00
R4193:Gfm1	UTSW	3	67,339,053 (GRCm39)	missense	probably damaging	1.00
R4661:Gfm1	UTSW	3	67,340,731 (GRCm39)	missense	probably damaging	1.00
R5023:Gfm1	UTSW	3	67,380,877 (GRCm39)	missense	probably damaging	1.00
R5057:Gfm1	UTSW	3	67,380,877 (GRCm39)	missense	probably damaging	1.00
R5503:Gfm1	UTSW	3	67,361,060 (GRCm39)	critical splice donor site	probably null
R5692:Gfm1	UTSW	3	67,342,955 (GRCm39)	missense	probably damaging	1.00
R5771:Gfm1	UTSW	3	67,342,895 (GRCm39)	missense	probably benign	0.11
R6232:Gfm1	UTSW	3	67,375,215 (GRCm39)	missense	possibly damaging	0.52
R6234:Gfm1	UTSW	3	67,342,847 (GRCm39)	missense	probably damaging	1.00
R6514:Gfm1	UTSW	3	67,380,879 (GRCm39)	missense	probably benign
R6911:Gfm1	UTSW	3	67,358,636 (GRCm39)	missense	possibly damaging	0.83
R7295:Gfm1	UTSW	3	67,347,514 (GRCm39)	missense	probably benign	0.30
R7899:Gfm1	UTSW	3	67,380,860 (GRCm39)	missense	probably benign	0.10
R8465:Gfm1	UTSW	3	67,339,032 (GRCm39)	missense	probably damaging	1.00
R8473:Gfm1	UTSW	3	67,361,051 (GRCm39)	missense	possibly damaging	0.71
R9745:Gfm1	UTSW	3	67,358,657 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATGACACCTCCCTGTGACAATC -3'
(R):5'- CGGGGCACTTCTCTTTAAGG -3'

Sequencing Primer
(F):5'- TGTGACAATCCTCTGCATAAACTACG -3'
(R):5'- GGCACTTCTCTTTAAGGTAGATCATC -3'

Posted On

2020-07-28